D26A (p.Asp26Ala) variant of GNAI1 (P63096)
D26A (p.Asp26Ala) in GNAI1 (P63096) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D26A (p.Asp26Ala) variant details
- p.Asp26Ala
- TOPMed rs886804159
- gnomAD rs886804159
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available